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https://www.readbyqxmd.com/read/29145612/developmental-and-gut-related-changes-to-microbiomes-of-the-cultured-juvenile-spiny-lobster-panulirus-ornatus
#1
Mei C Ooi, Evan F Goulden, Gregory G Smith, Barbara F Nowak, Andrew R Bridle
With recent technologies making it possible for commercial scale closed life-cycle aquaculture production of spiny lobster (Panulirus ornatus) comes a strong impetus to further understand aspects of lobster health. The gut microbiome plays a crucial role in host health, affecting growth, digestion, immune responses and pathogen resistance. Herein we characterise and compare gut microbiomes across different developmental stages (6-7 d post-emergence [dpe], 52 dpe and 13 months post-emergence [mpe]) and gut regions (foregut, midgut and hindgut) of cultured P...
November 14, 2017: FEMS Microbiology Ecology
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#2
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29144507/the-fragile-x-mental-retardation-protein-regulates-tumor-invasiveness-related-pathways-in-melanoma-cells
#3
Francesca Zalfa, Vincenzo Panasiti, Simone Carotti, Maria Zingariello, Giuseppe Perrone, Laura Sancillo, Laura Pacini, Flavie Luciani, Vincenzo Roberti, Silvia D'Amico, Rosa Coppola, Simona Osella Abate, Rosa Alba Rana, Anastasia De Luca, Mark Fiers, Valentina Melocchi, Fabrizio Bianchi, Maria Giulia Farace, Tilmann Achsel, Jean-Christophe Marine, Sergio Morini, Claudia Bagni
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival...
November 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29143897/anaplastic-lymphoma-kinase-testing-ihc-vs-fish-vs-ngs
#4
REVIEW
Xiaomin Niu, Jody C Chuang, Gerald J Berry, Heather A Wakelee
Personalized targeted therapy has emerged as a promising strategy in lung cancer treatment, with current attention focused on elucidation and detection of oncogenic drivers responsible for tumor initiation and maintenance and development of drug resistance. In lung cancer, several oncogenic drivers have been reported, triggering the application of tyrosine kinase inhibitors (TKIs) to target these dysfunctional genes. The anaplastic lymphoma kinase (ALK) rearrangement is responsible for about 4-7% of all non-small cell lung cancers (NSCLCs) and perhaps as high as a third in specific patient populations such as younger, male, non-smokers with advanced stage, epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene (KRAS) wild type, and signet ring cell adenocarcinoma with abundant intracytoplasmic mucin...
November 16, 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29143887/diagnosis-and-treatment-of-aplastic-anemia
#5
REVIEW
Scott A Peslak, Timothy Olson, Daria V Babushok
Acquired aplastic anemia (AA) is a rare, life-threatening bone marrow failure (BMF) disorder that affects patients of all ages and is caused by lymphocyte destruction of early hematopoietic cells. Diagnosis of AA requires a comprehensive approach with prompt evaluation for inherited and secondary causes of bone marrow aplasia, while providing aggressive supportive care. The choice of frontline therapy is determined by a number of factors including AA severity, age of the patient, donor availability, and access to optimal therapies...
November 16, 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29143497/detection-and-monitoring-of-driver-mutations-by-next-generation-sequencing-in-squamous-cell-lung-cancer-patient-and-possible-predictive-biomarker-of-third-generation-egfr-tyrosine-kinase-inhibitors
#6
Xiaoyan Shen, Jie Shen, Hang Zhang, Yuxin Cheng, Yang Yang, Jiahui Gao, Yu Zhang, Rutian Li, Baorui Liu, Lifeng Wang
Driver mutation detection and the development of targeted drugs have significantly improved survival of advanced lung adenocarcinoma patients with driver mutations. However, we still lack understanding of druggable mutations in patients with advanced squamous cell lung cancer (SQCLC). Less than 10% of SQCLC patients have EGFR gene mutations, thus we have limited knowledge of biological molecular changes with first generation EGFR-tyrosine kinase inhibitor (TKI) resistance. We report a case of an SQCLC patient treated with first-line platinum-doublet chemotherapy...
November 16, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/29143419/long-non-coding-rna-rp11-380d23-2-drives-distal-proximal-patterning-of-the-lung-by-regulating-pitx2-expression
#7
Poulomi Banerjee, Harshini Surendran, Kapil Bharti, Kaoru Morishita, Anurag Varshney, Rajarshi Pal
Early lung development is a tightly orchestrated process encompassing (a) formation of definitive endoderm, (b) anteriorization of definitive endoderm followed by (c) specification and maturation of both proximal and distal lung precursors. Several reports detailing the interaction of genes and proteins during lung development are available; however, studies reporting the role(s) of long non-coding RNAs (lncRNA) in lung morphogenesis are limited. To investigate this, we tailored a protocol for differentiation of human induced pluripotent stem cells into distal and proximal lung progenitors to mimic in vivo lung development...
November 16, 2017: Stem Cells
https://www.readbyqxmd.com/read/29142766/mutations-in-nsd1-and-nfix-in-three-patients-with-clinical-features-of-sotos-syndrome-and-malan-syndrome
#8
Yongping Lu, Pin Fee Chong, Ryutaro Kira, Toshiyuki Seto, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
Mutations in nuclear receptor SET domain-containing protein 1 gene ( NSD1 ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene ( NFIX ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in NSD1 and NFIX in three patients with developmental disabilities associated with overgrowth or macrocephaly...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142289/comprehensive-genomic-analysis-of-a-plant-growth-promoting-rhizobacterium-pantoea-agglomerans-strain-p5
#9
Vahid Shariati J, Mohammad Ali Malboobi, Zeinab Tabrizi, Elahe Tavakol, Parviz Owilia, Maryam Safari
In this study, we provide a comparative genomic analysis of Pantoea agglomerans strain P5 and 10 closely related strains based on phylogenetic analyses. A next-generation shotgun strategy was implemented using the Illumina HiSeq 2500 technology followed by core- and pan-genome analysis. The genome of P. agglomerans strain P5 contains an assembly size of 5082485 bp with 55.4% G + C content. P. agglomerans consists of 2981 core and 3159 accessory genes for Coding DNA Sequences (CDSs) based on the pan-genome analysis...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142287/targeted-next-generation-sequencing-in-italian-patients-with-usher-syndrome-phenotype-genotype-correlations
#10
Chiara M Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142263/hyaluronic-acid-35-normalizes-tlr4-signaling-in-kupffer-cells-from-ethanol-fed-rats-via-regulation-of-microrna291b-and-its-target-tollip
#11
Paramananda Saikia, Sanjoy Roychowdhury, Damien Bellos, Katherine A Pollard, Megan R McMullen, Rebecca L McCullough, Arthur J McCullough, Pierre Gholam, Carol de la Motte, Laura E Nagy
TLR4 signaling in hepatic macrophages is increased after chronic ethanol feeding. Treatment of hepatic macrophages after chronic ethanol feeding with small-specific sized hyaluronic acid 35 (HA35) normalizes TLR4 signaling; however, the mechanisms for HA35 action are not completely understood. Here we used Next Generation Sequencing of microRNAs to identify negative regulators of TLR4 signaling reciprocally modulated by ethanol and HA35 in hepatic macrophages. Eleven microRNAs were up-regulated by ethanol; only 4 microRNAs, including miR291b, were decreased by HA35...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142125/emergence-of-double-and-triple-gene-reassortant-g1p-8-rotaviruses-possessing-a-ds-1-like-backbone-post-rotavirus-vaccine-introduction-in-malawi
#12
Khuzwayo C Jere, Chrispin Chaguza, Naor Bar-Zeev, Jenna Lowe, Chikondi Peno, Benjamin Kumwenda, Osamu Nakagomi, Jacqueline E Tate, Umesh D Parashar, Robert S Heyderman, Neil French, Nigel A Cunliffe, Iturriza-Gomara Miren
To combat the high burden of rotavirus gastroenteritis, multiple African countries have introduced rotavirus vaccines into their childhood immunisation programmes. Malawi incorporated a G1P[8] rotavirus vaccine (Rotarix™) into its immunisation schedule in 2012. Utilising a surveillance platform of hospitalised rotavirus gastroenteritis cases, we examined the phylodynamics of G1P[8] rotavirus strains that circulated in Malawi before (1998 - 2012) and after (2013 - 2014) vaccine introduction. Analysis of whole genomes obtained through next generation sequencing revealed that all randomly-selected pre-vaccine G1P[8] strains sequenced (n=32) possessed a Wa-like genetic constellation, whereas post-vaccine G1P[8] strains (n=18) had a DS-1-like constellation...
November 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29141672/a-novel-git2-braf-fusion-in-pilocytic-astrocytoma
#13
Jeffrey Helgager, Hart G Lidov, Navin R Mahadevan, Mark W Kieran, Keith L Ligon, Sanda Alexandrescu
BACKGROUND: KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway. Fusions of BRAF with other partner genes, as well as other genetic alterations not involving BRAF but also leading to MAPK pathway activation have been described rarely. CASE PRESENTATION: We present a new fusion partner in the low-grade glioma of a 10-year-old male, who presented with headaches and recent episodes of seizures...
November 15, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29141652/congenital-myopathies-clinical-phenotypes-and-new-diagnostic-tools
#14
REVIEW
Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M Santorelli
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis...
November 15, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29141603/detect-i-detect-ii-a-study-protocol-for-a-prospective-multicentre-observational-study-to-validate-the-uromark-assay-for-the-detection-of-bladder-cancer-from-urinary-cells
#15
Wei Shen Tan, Andrew Feber, Liqin Dong, Rachael Sarpong, Sheida Rezaee, Simon Rodney, Pramit Khetrapal, Patricia de Winter, Frelyn Ocampo, Rumana Jalil, Norman R Williams, Chris Brew-Graves, John D Kelly
BACKGROUND: Haematuria is a common finding in general practice which requires visual inspection of the bladder by cystoscopy as well as upper tract imaging. In addition, patients with non-muscle invasive bladder cancer (NMIBC) often require surveillance cystoscopy as often as three monthly depending on disease risk. However, cystoscopy is an invasive procedure which is uncomfortable, requires hospital attendance and is associated with a risk of urinary tract infection. We have developed the UroMark assay, which can detect 150 methylation specific alteration specific to bladder cancer using DNA from urinary sediment cells...
November 15, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29141374/-association-of-pd-1-tim-3-and-trem-1-single-nucleotide-polymorphisms-with-pulmonary-tuberculosis-susceptibility
#16
F M Wang, X Zhang, L Lan, J M Ji, H B Tang, X J Yao, Y Jiang, J Qian, X G Xu, Q Li, P Yao, J H Li, Y P Shen
Objective: To investigate the association of programmed cell death 1(PD-1), T cell immunoglobulin mucin 3 (TIM-3) and triggering receptor expressed on myeloid cells-1 (TREM-1) genes polymorphisms with pulmonary tuberculosis susceptibility. Methods: In this case-control study, peripheral venous blood of 100 pulmonary tuberculosis patients (pulmonary tuberculosis group) in the Jintan People's Hospital of Changzhou and of community physical examination volunteers (health control group) was collected from Mar 2015 to Sep 2016...
November 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29141325/-genetic-characteristics-of-acute-promyelocytic-leukemia-and-the-application-of-next-generation-sequencing-technology-in-apl
#17
J Zhao, B S Li, J Y Tang
No abstract text is available yet for this article.
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141320/-diagnosis-of-one-child-herpes-simplex-virus-type-1-encephalitis-with-next-generation-sequencing
#18
J Z Zhang, Q Chen, P Zheng
No abstract text is available yet for this article.
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#19
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141006/the-mitochondrial-genome-of-muga-silkworm-antheraea-assamensis-and-its-comparative-analysis-with-other-lepidopteran-insects
#20
Deepika Singh, Debajyoti Kabiraj, Pragya Sharma, Hasnahana Chetia, Ponnala Vimal Mosahari, Kartik Neog, Utpal Bora
Muga (Antheraea assamensis) is an economically important silkmoth endemic to the states of Assam and Meghalaya in India and is the producer of the strongest known commercial silk. However, there is a scarcity of genomic and proteomic data for understanding the organism at a molecular level. Our present study is on decoding the complete mitochondrial genome (mitogenome) of A. assamensis using next generation sequencing technology and comparing it with other available lepidopteran mitogenomes. Mitogenome of A...
2017: PloS One
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